Results 1 to 10 of about 445,228 (273)

Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment

Biomedicines, 2021
Bilateral adrenal hyperplasia is a rare cause of Cushing’s syndrome. Micronodular adrenal hyperplasia, including the primary pigmented micronodular adrenal dysplasia (PPNAD) and the isolated micronodular adrenal hyperplasia (iMAD), can be distinguished ...
Benjamin Chevalier, Marie-Christine Vantyghem, Stéphanie Espiard   +2 more
doaj   +2 more sources

Congenital Adrenal Hyperplasia [PDF]

Journal of Pediatric and Adolescent Gynecology, 2017
The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21.
Diala, El-Maouche, Wiebke, Arlt, Deborah P, Merke   +2 more
semanticscholar   +6 more sources

Beta-Catenin Causes Adrenal Hyperplasia by Blocking Zonal Transdifferentiation

Cell Reports, 2020
Summary: Activating mutations in the canonical Wnt/β-catenin pathway are key drivers of hyperplasia, the gateway for tumor development. In a wide range of tissues, this occurs primarily through enhanced effects on cellular proliferation.
Emanuele Pignatti, Sining Leng, Yixing Yuchi, Kleiton S. Borges, Nick A. Guagliardo, Manasvi S. Shah, Gerard Ruiz-Babot, Dulanjalee Kariyawasam, Makoto Mark Taketo, Ji Miao, Paula Q. Barrett, Diana L. Carlone, David T. Breault   +12 more
doaj   +2 more sources

Congenital adrenal hyperplasia [PDF]

Medicinski Podmladak, 2021
Congenital adrenal hyperplasia is a disease in which a gene mutation, which is inherited in an autosomal recessive manner, causes a disorder in the synthesis of enzymes that create glucocorticoids, mineralocorticoids, or sex steroids from adrenal ...
Miolski Jelena, Ješić Maja, Zdravković Vera   +2 more
doaj   +3 more sources

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

Cell Reports, 2018
Summary: Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback ...
Gerard Ruiz-Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon J. Ajodha, David R. Taylor, Lea Ghataore, Norman F. Taylor, Undine Schubert, Christian G. Ziegler, Helen L. Storr, Maralyn R. Druce, Evelien F. Gevers, William M. Drake, Umasuthan Srirangalingam, Gerard S. Conway, Peter J. King, Louise A. Metherell, Stefan R. Bornstein, Leonardo Guasti   +18 more
doaj   +2 more sources

Congenital Adrenal Hyperplasia

Pediatrics in Review
AbstractWe describe congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which is the most common primary adrenal insufficiency in children and adolescents. In this comprehensive review of CAH, we describe presentations at different life stages depending on disease severity.
Sharma L, Momodu II, Singh G.
europepmc   +5 more sources

Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia [PDF]

Endocrinology and Metabolism Clinics of North America, 2015
Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical ...
Adina F, Turcu, Richard J, Auchus
openaire   +3 more sources

Experience in the treatment of patients with ACTH-independent macronodular bilateral adrenal hyperplasia [PDF]

Наука и инновации в медицине, 2023
Aim to determine the optimal tactics for the examination and treatment of patients with macronadular bilateral adrenal hyperplasia. Material and methods. The study included 11 patients with macronodular bilateral adrenal hyperplasia (main group).
Aleksandr A. Lisitcyn, Vyacheslav P. Zemlyanoi, Sergei B. Shustov, Lyudmila I. Velikanova, Evgeniya M. Nesvit   +4 more
doaj   +1 more source

Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management.

Endocrine reviews, 2021
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of ...
H. Claahsen-van der Grinten, P. Speiser, S. Ahmed, W. Arlt, R. Auchus, H. Falhammar, C. Flück, L. Guasti, A. Huebner, B. Kortmann, N. Krone, D. Merke, W. Miller, A. Nordenström, Nicole Reisch, D. Sandberg, N. Stikkelbroeck, P. Touraine, Agustini Utari, S. Wudy, P. White   +20 more
semanticscholar   +1 more source

Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature

Radiology Case Reports, 2022
Congenital adrenal hyperplasia is an autosomal recessive disease most commonly associated with 21-hydroxylase deficiency, an enzyme integral in the biosynthesis of mineralocorticoids and glucocorticoids.
Aaron Jacobson, DO, M. Eng., Elaine Koberlein, BS, Alan Thomay, MD, Cara B Lombard, MD, Ayodele Adelanwa, MD, Dhairya A Lakhani, MD, Kelly T. Smith, MD, MS   +6 more
doaj   +1 more source